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Updated: Sep 9, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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ベスレム 筋病 の 臨床 遺伝 的 範囲 を 拡大 する: ケララ の 5 人 の 患者 の 家族

Jayaram Saibaba1, Saranya B Gomathy1, Santhakumar Senthilvelan2

  • 1Department of Neurology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.

Annals of Indian Academy of Neurology
|September 3, 2025
PubMed
まとめ

ベスレム筋膜症は,コラーゲンVIに関連したより軽度の筋肉疾患で,若い男性で特定されました. COL6A1遺伝子の変異が発見され 進行性骨髄症と小児縮が説明されました

キーワード:
ベスレム症候群タイプVIのコラーゲンターゲットサイン

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